MUTATION: MYLK

DISORDER NAME: MYLK

CLASSIFICATION: Non-syndromic FTAAD

MOLECULAR PATHWAY: Smooth Muscle Cell (SMC) Contractility

features

• Thoracic aortic aneurysm and dissection (TAAD)

- Dissection of ascending and descending aorta at mean age 55, often with little or no aortic dilatation documented

• Early dissections at the aortic size < 5cm have been documented

No facial dimorphism and skeletal abnormalities

Prevalence of MYLK mutations in patents with FTAAD is 1%